MCID: SLL003
MIFTS: 46

Salla Disease malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Salla Disease

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NIH Rare Diseases:41 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards based summary: Salla Disease, also known as free sialic acid storage disease, is related to free sialic acid storage disorders and sialuria, and has symptoms including autosomal recessive inheritance, exotropia and nystagmus. An important gene associated with Salla Disease is SLC17A5 (solute carrier family 17 (acidic sugar transporter), member 5), and among its related pathways are Tuberculosis and Phagosome. The compounds ganglioside and dmso have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related mouse phenotype mortality/aging.

OMIM:45 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile... (604369) more...

Wikipedia:63 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Aliases & Classifications for Salla Disease

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Salla Disease, Aliases & Descriptions:

Name: Salla Disease 45 10 41 20 47 22
Free Sialic Acid Storage Disease 41 60
Sialic Acid Storage Disease, Finnish Type 60
 
Sialuria, Finnish Type 41
Sialuria 60
Sd 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
salla disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy


External Ids:

OMIM45 604369
Orphanet47 309334
ICD10 via Orphanet26 E77.8

Related Diseases for Salla Disease

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Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1free sialic acid storage disorders30.8SLC17A5, GNE
2sialuria30.3GNE
3infantile free sialic acid storage disease10.9
4free sialic acid storage disease, infantile form10.6
5intermediate severe salla disease10.5
6hemoglobin sd10.4
7retinitis10.4
8shwachman-bodian-diamond syndrome10.4
9ocular hypertension10.2
10gallbladder cancer10.2
11trichohepatoenteric syndrome 110.1
12myopia10.1
13sialidosis, type i10.1
14sialic acid storage disorder, infantile10.1
15lysosomal storage disease10.1
16pulmonary emphysema10.1
17cystinosis10.1
18microcephaly 1, primary, autosomal recessive10.0
19microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.0
20obesity10.0
21keratoconus10.0
22retinitis pigmentosa10.0
23diabetic macular edema10.0
24hereditary spherocytosis10.0
25choroiditis10.0
26hydronephrosis10.0
27gastroenteritis10.0
28melanoma10.0
29neuritis10.0
30optic neuritis10.0
31central serous chorioretinopathy10.0
32semantic dementia10.0
33proteinuria10.0
34endotheliitis10.0
35microcephaly 5, primary, autosomal recessive9.9
36macular dystrophy, vitelliform, 59.9
37alzheimer disease9.9
38macular dystrophy, vitelliform, 49.9
39wolff-parkinson-white syndrome9.9
40nanophthalmos 49.9
41microcephaly 10, primary, autosomal recessive9.9
42mental retardation and microcephaly with pontine and cerebellar hypoplasia9.9
43malaria9.9
44lung cancer9.9
45desbuquois dysplasia9.9
46retinoschisis9.9
47multiple sclerosis, disease progression, modifier of9.9
48acid-labile subunit, deficiency of9.9
49lissencephaly 49.9
50frontotemporal lobar degeneration with ubiquitin-positive inclusions9.9

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to salla disease

Symptoms for Salla Disease

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Symptoms by clinical synopsis from OMIM:

604369

Clinical features from OMIM:

604369

HPO human phenotypes related to Salla Disease:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 exotropia HP:0000577
3 nystagmus HP:0000639
4 delayed speech and language development HP:0000750
5 intellectual disability HP:0001249
6 seizures HP:0001250
7 ataxia HP:0001251
8 muscular hypotonia HP:0001252
9 spasticity HP:0001257
10 dysarthria HP:0001260
11 global developmental delay HP:0001263
12 growth delay HP:0001510
13 vacuolated lymphocytes HP:0001922
14 abnormality of metabolism/homeostasis HP:0001939
15 athetosis HP:0002305
16 inability to walk HP:0002540
17 thickened calvaria HP:0002684

Drugs & Therapeutics for Salla Disease

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Drug clinical trials:

Search ClinicalTrials for Salla Disease

Search NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

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Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease20 22 SLC17A5

Anatomical Context for Salla Disease

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MalaCards organs/tissues related to Salla Disease:

31
Brain, Testes

Animal Models for Salla Disease or affiliated genes

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MGI Mouse Phenotypes related to Salla Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0SLC17A5, LAMP1, LAMP2, GNE

Publications for Salla Disease

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Articles related to Salla Disease:

(show all 46)
idTitleAuthorsYear
1
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. (24993898)
2014
2
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. (23227378)
2012
3
Salla disease in Turkish children: severe and conventional type. (20196397)
2009
4
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. (16158439)
2005
5
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. (16170568)
2005
6
Novel form of intermediate salla disease: clinical and neuroimaging features. (16417876)
2005
7
Salla disease and ISSD--what does the future hold? (15171996)
2004
8
Neurocognitive profiles in Salla disease. (15581157)
2004
9
Cerebellar white matter involvement in Salla disease. (15179531)
2004
10
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. (15635485)
2004
11
A case of Salla disease with involvement of the cerebellar white matter. (12592494)
2003
12
Two cases of Salla disease in Danish children. (14696864)
2003
13
Free sialic acid storage (Salla) disease in Sweden. (12578289)
2002
14
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. (12121352)
2002
15
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. (11992753)
2002
16
Multiple neuroendocrine disorder in Salla disease. (11669356)
2001
17
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. (10891913)
2000
18
Brain involvement in Salla disease. (10219409)
1999
19
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. (10331697)
1999
20
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). (9935050)
1999
21
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. (9343943)
1997
22
Salla disease--rare or underdiagnosed? (9112963)
1997
23
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. (8825046)
1996
24
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. (7573051)
1995
25
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. (7557994)
1995
26
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. (7885532)
1994
27
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. (1505579)
1992
28
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. (1959930)
1991
29
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. (2381164)
1990
30
Neuropathology of Salla disease. (3287834)
1988
31
Pulmonary emphysema in a nonsmoking patient with Salla disease. (3565947)
1987
32
Disorders of lysosomal membrane transport--cystinosis and Salla disease. (3326729)
1987
33
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. (3425617)
1987
34
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. (3944269)
1986
35
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. (3718508)
1986
36
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. (3961501)
1986
37
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. (3960283)
1986
38
Salla disease in one non-Finnish patient. (3770005)
1986
39
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)
1985
40
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. (4032465)
1985
41
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. (4012278)
1985
42
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. (6694015)
1984
43
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)
1983
44
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. (6297896)
1983
45
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. (510308)
1979
46
Four patients with a new lysosomal storage disorder (Salla disease). (723890)
1978

Variations for Salla Disease

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UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

62
id Symbol AA change Variation ID SNP ID
1SLC17A5p.Arg39CysVAR_018684
2SLC17A5p.Lys136GluVAR_018685

Clinvar genetic disease variations for Salla Disease:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC17A5NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu)single nucleotide variantPathogenicrs80338795GRCh37Chr 6, 74351533: 74351533
2SLC17A5NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs80338794GRCh37Chr 6, 74354306: 74354306
3SLC17A5SLC17A5, 15-BP DELdeletionPathogenic
4SLC17A5NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs)deletionLikely pathogenicrs386833987GRCh37Chr 6, 74325141: 74325142
5SLC17A5NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs)deletionLikely pathogenicrs386833988GRCh37Chr 6, 74320243: 74320244
6SLC17A5NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu)single nucleotide variantLikely pathogenicrs386833989GRCh37Chr 6, 74320156: 74320156
7SLC17A5NM_012434.4(SLC17A5): c.291G> A (p.Thr97=)single nucleotide variantLikely pathogenicrs386833990GRCh37Chr 6, 74354130: 74354130
8SLC17A5NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter)single nucleotide variantLikely pathogenicrs386833991GRCh37Chr 6, 74351630: 74351630
9SLC17A5NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs)deletionLikely pathogenicrs386833992GRCh37Chr 6, 74351432: 74351432
10SLC17A5NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter)single nucleotide variantLikely pathogenicrs386833993GRCh37Chr 6, 74345205: 74345205
11SLC17A5NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del)deletionLikely pathogenicrs386833994GRCh37Chr 6, 74345108: 74345122
12SLC17A5NM_012434.4(SLC17A5): c.95-1G> Csingle nucleotide variantLikely pathogenicrs386833995GRCh37Chr 6, 74354327: 74354327
13SLC17A5NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu)single nucleotide variantLikely pathogenicrs386833996GRCh37Chr 6, 74325166: 74325166
14GNENM_001128227.2(GNE): c.889C> T (p.Arg297Trp)single nucleotide variantPathogenicrs121908621GRCh37Chr 9, 36234103: 36234103
15GNENM_001128227.2(GNE): c.890G> A (p.Arg297Gln)single nucleotide variantPathogenicrs121908622GRCh37Chr 9, 36234102: 36234102
16GNENM_001128227.2(GNE): c.881G> T (p.Arg294Leu)single nucleotide variantPathogenicrs121908623GRCh37Chr 9, 36234111: 36234111

Expression for genes affiliated with Salla Disease

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Search GEO for disease gene expression data for Salla Disease.

Pathways for genes affiliated with Salla Disease

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Pathways related to Salla Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LAMP1, LAMP2
29.1LAMP1, LAMP2
39.1LAMP1, LAMP2
48.6SLC17A5, LAMP1, LAMP2

Compounds for genes affiliated with Salla Disease

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Salla Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ganglioside439.5LAMP1, GNE
2dmso439.4SLC17A5, LAMP1
3sialic acid439.4GNE, SLC17A5
4n-acetyllactosamine43 2410.3LAMP2, LAMP1
5mannose 6-phosphate43 2410.2LAMP1, LAMP2
6epinephrine43 24 1211.1LAMP1, SLC17A5
7glycogen43 2410.1SLC17A5, LAMP2
8sucrose43 24 1211.0LAMP2, LAMP1

GO Terms for genes affiliated with Salla Disease

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Cellular components related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.1LAMP2, LAMP1
2late endosomeGO:00057708.8LAMP2, LAMP1
3lysosomal membraneGO:00057658.6SLC17A5, LAMP1, LAMP2
4membraneGO:00160208.5LAMP2, LAMP1, SLC17A5

Biological processes related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein stabilizationGO:00508219.1LAMP1, LAMP2

Molecular functions related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.1LAMP1, LAMP2

Products for genes affiliated with Salla Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Salla Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet